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A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling <i>HK1</i>

2021-12-05

Abstract excerpt

Gene expression is tightly regulated with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements and their disruption might cause human disease. We performed gene-agnostic screening of the non-coding regions to discover new molecular causes of congenital hyperinsulinism. This identified 14 non-codi...

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Identifiers and source

Literature Corpus work
bcd67261-b105-5ecb-8975-214a7c5fd372
DOI
10.1101/2021.12.03.21267240
Open publication

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A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling <i>HK1</i>DOI 10.1101/2021.12.03.21267240
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